Canonical Allele Identifier: CA351537976

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190218T>C (hg19) ; chr3:g.14148718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148718T>C , CM000665.2:g.14148718T>C	GRCh38
NC_000003.11:g.14190218T>C , CM000665.1:g.14190218T>C	GRCh37
NC_000003.10:g.14165219T>C	NCBI36
NG_011763.1:g.34955A>G , LRG_472:g.34955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2264A>G MANE Select	ENSP00000285021.8:p.Glu755Gly
ENST00000285021.11:c.2264A>G	ENSP00000285021.7:p.Glu755Gly
ENST00000427795.2:n.129A>G
ENST00000476581.6:c.*1717A>G	ENSP00000424548.1:n.*1717A>G
NM_004628.4:c.2264A>G , LRG_472t1:c.2264A>G	NP_004619.3:p.Glu755Gly
NR_027299.1:n.2244A>G
XM_011534092.1:c.2264A>G	XP_011532394.1:p.Glu755Gly
NM_001354726.1:c.1685A>G	NP_001341655.1:p.Glu562Gly
NM_001354727.1:c.2258A>G	NP_001341656.1:p.Glu753Gly
NM_001354729.1:c.2246A>G	NP_001341658.1:p.Glu749Gly
NM_001354730.1:c.2018A>G	NP_001341659.1:p.Glu673Gly
NR_148950.1:n.2207A>G
NR_148951.1:n.2083A>G
XR_001740256.2:n.2297A>G
XR_002959580.1:n.2297A>G
XR_002959581.1:n.3914A>G
NM_001354727.2:c.2258A>G	NP_001341656.1:p.Glu753Gly
NM_004628.5:c.2264A>G MANE Select	NP_004619.3:p.Glu755Gly
NR_148950.2:n.2136A>G
NR_148951.2:n.2012A>G
NM_001354726.2:c.1685A>G	NP_001341655.1:p.Glu562Gly
NM_001354729.2:c.2246A>G	NP_001341658.1:p.Glu749Gly
NM_001354730.2:c.2018A>G	NP_001341659.1:p.Glu673Gly